Canonical Allele Identifier: CA958253

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298256
• ClinVar RCV Id: RCV000289234 ; RCV000346485 ; RCV000401493 ; RCV000401706 ; RCV001096534 ; RCV001472118
• dbSNP Id: rs138246242
• ExAC: 1:94520737 G / A
• gnomAD v2: 1-94520737-G-A
• gnomAD v3: 1-94055181-G-A
• gnomAD v4: 1-94055181-G-A
• MyVariant Identifiers: chr1:g.94520737G>A (hg19) ; chr1:g.94055181G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94055181G>A , CM000663.2:g.94055181G>A	GRCh38
NC_000001.10:g.94520737G>A , CM000663.1:g.94520737G>A	GRCh37
NC_000001.9:g.94293325G>A	NCBI36
NG_009073.1:g.70969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2517C>T MANE Select	ENSP00000359245.3:p.Ser839=
ENST00000649773.1:c.2295C>T	ENSP00000496882.1:p.Ser765=
ENST00000370225.3:c.2517C>T	ENSP00000359245.3:p.Ser839=
ENST00000536513.5:c.-65+7993C>T	ENSP00000439707.2:n.-65+7993C>T
NM_000350.2:c.2517C>T	NP_000341.2:p.Ser839=
NM_000350.3:c.2517C>T MANE Select	NP_000341.2:p.Ser839=